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Lenz-Majewski hyperostotic dwarfism
Summary
- Synonym
-
- Lenz-Majewski syndrome
- Definition
- A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111507
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48651 | Phosphatidylserine synthase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005019 | Diaphyseal undertubulation |
| HP:0005477 | Progressive sclerosis of skull base |
| HP:0006152 | Proximal symphalangism of hands |
| HP:0006297 | Enamel hypoplasia |
| HP:0006380 | Knee flexion contracture |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0007678 | Lacrimal duct stenosis |
| HP:0008070 | Sparse hair |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand |
| HP:0010554 | Cutaneous finger syndactyly |
